Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12257939C>T , CM000663.2:g.12257939C>T | GRCh38 |
| NC_000001.10:g.12317996C>T , CM000663.1:g.12317996C>T | GRCh37 |
| NC_000001.9:g.12240583C>T | NCBI36 |
| NG_056877.1:g.32901C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015378.4:c.946C>T MANE Select | NP_056193.2:p.Arg316Ter |
| ENST00000620676.6:c.946C>T MANE Select | ENSP00000478104.1:p.Arg316Ter |
| NM_015378.3:c.946C>T | NP_056193.2:p.Arg316Ter |
| NM_018156.3:c.946C>T | NP_060626.2:p.Arg316Ter |
| NM_018156.4:c.946C>T | NP_060626.2:p.Arg316Ter |
| ENST00000489961.1:n.427C>T | |
| ENST00000613099.4:c.946C>T | ENSP00000482233.1:p.Arg316Ter |
| ENST00000620676.4:c.946C>T | ENSP00000478104.1:p.Arg316Ter |